Literature DB >> 17708558

Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.

Stefan Wieczorek, Larissa Arning, Elke R Gizewski, Ingrid Alheite, Duymal Timmann.   

Abstract

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Year:  2007        PMID： 17708558     DOI： 10.1002/mds.21673

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

1.  Cerebellar neurochemical alterations in spinocerebellar ataxia type 14 appear to include glutathione deficiency.

Authors:  Sarah Doss; Jan Leo Rinnenthal; Tanja Schmitz-Hübsch; Alexander U Brandt; Sebastian Papazoglou; Silke Lux; Stephan Maul; Jens Würfel; Matthias Endres; Thomas Klockgether; Martina Minnerop; Friedemann Paul
Journal:  J Neurol       Date:  2015-06-05       Impact factor: 4.849

2.  A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult.

Authors:  Katherine E Hekman; Guo-Yun Yu; Christopher D Brown; Haipeng Zhu; Xiaofei Du; Kristina Gervin; Dag Erik Undlien; April Peterson; Giovanni Stevanin; H Brent Clark; Stefan M Pulst; Thomas D Bird; Kevin P White; Christopher M Gomez
Journal:  Hum Mol Genet       Date:  2012-09-21       Impact factor: 6.150

3.  Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.

Authors:  Takahiro Seki; Nana Abe-Seki; Takahiro Kikawada; Hideyuki Takahashi; Kazuhiro Yamamoto; Naoko Adachi; Shigeru Tanaka; Izumi Hide; Naoaki Saito; Norio Sakai
Journal:  J Biol Chem       Date:  2010-08-12       Impact factor: 5.157

4.  Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.

Authors:  Tanja Schmitz-Hübsch; Silke Lux; Peter Bauer; Alexander U Brandt; Elena Schlapakow; Susanne Greschus; Michael Scheel; Hanna Gärtner; Mehmet E Kirlangic; Vincent Gras; Dagmar Timmann; Matthis Synofzik; Alejandro Giorgetti; Paolo Carloni; Jon N Shah; Ludger Schöls; Ute Kopp; Lisa Bußenius; Timm Oberwahrenbrock; Hanna Zimmermann; Caspar Pfueller; Ella-Maria Kadas; Maria Rönnefarth; Anne-Sophie Grosch; Matthias Endres; Katrin Amunts; Friedemann Paul; Sarah Doss; Martina Minnerop
Journal:  Ann Clin Transl Neurol       Date:  2021-03-19       Impact factor: 4.511

5.  Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm.

Authors:  Iselin Marie Wedding; Jeanette Koht; Espen Dietrichs; Nils Inge Landrø; Chantal M E Tallaksen
Journal:  BMC Neurol       Date:  2013-11-29       Impact factor: 2.474
  5 in total

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